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Ciara, Elzbieta
151  Ergebnisse:
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1

Efficacy and Safety of Ketogenic Diet Treatment in Pediatri..:

Wesół-Kucharska, Dorota ; Greczan, Milena ; Kaczor, Magdalena...
Nutrients.  16 (2024)  6 - p. 812 , 2024
Link: https://doi.org/10.3390/..
 
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Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100828 , 2023
Link: https://doi.org/10.1016/..
 
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3

Exome sequencing reveals IFT172 variants in patients with n..:

Neřoldová, Magdaléna ; Ciara, Elżbieta ; Slatinská, Janka...
PLOS ONE.  18 (2023)  7 - p. e0288907 , 2023
Link: https://doi.org/10.1371/..
 
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4

Biochemical, Genetic and Clinical Diagnostic Approaches to ..:

Senarathne, Udara D. ; Indika, Neluwa-Liyanage R. ; Jezela-Stanek, Aleksandra...
Genes.  14 (2023)  4 - p. 803 , 2023
Link: https://doi.org/10.3390/..
 
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Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E....
Genetics in Medicine.  25 (2023)  6 - p. 100314 , 2023
Link: https://doi.org/10.1016/..
 
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6

DCDC2-Related Ciliopathy: Report of Six Polish Patients, No..:

Lipiński, Patryk ; Ciara, Elżbieta ; Jurkiewicz, Dorota...
Diagnostics.  13 (2023)  11 - p. 1917 , 2023
Link: https://doi.org/10.3390/..
 
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7

Sodium‐glucose cotransporter type 2 channel inhibitor: Brea..:

Kaczor, Magdalena ; Greczan, Milena ; Kierus, Karolina...
JIMD Reports.  63 (2022)  3 - p. 199-206 , 2022
Link: https://doi.org/10.1002/..
 
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8

Case Report: Adenosine kinase deficiency diagnosed 10 years..:

Lipiński, Patryk ; Ciara, Elżbieta ; Jurkiewicz, Dorota...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Clinical implementation of RNA sequencing for Mendelian dis..:

Yépez, Vicente A. ; Gusic, Mirjana ; Kopajtich, Robert...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain.  145 (2022)  5 - p. 1624-1631 , 2022
Link: https://doi.org/10.1093/..
 
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11

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation.  43 (2022)  3 - p. 403-419 , 2022
Link: https://doi.org/10.1002/..
 
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12

Clinical Presentation of Left Ventricular Noncompaction Car..:

Paszkowska, Agata ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta...
Genes.  13 (2022)  3 - p. 477 , 2022
Link: https://doi.org/10.3390/..
 
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13

Genetic Profile of Left Ventricular Noncompaction Cardiomyo..:

Piekutowska-Abramczuk, Dorota ; Paszkowska, Agata ; Ciara, Elżbieta...
Genes.  13 (2022)  8 - p. 1334 , 2022
Link: https://doi.org/10.3390/..
 
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14

Early treatment of biotin–thiamine–responsive basal ganglia..:

Wesół-Kucharska, Dorota ; Greczan, Milena ; Kaczor, Magdalena...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100801 , 2021
Link: https://doi.org/10.1016/..
 
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15

Sensorineural hearing loss in GSD type I patients. A newly ..:

Iwanicka-Pronicka, Katarzyna ; Trubicka, Joanna ; Szymanska, Edyta...
International Journal of Pediatric Otorhinolaryngology.  151 (2021)  - p. 110970 , 2021
Link: https://doi.org/10.1016/..
 
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